Slowly progressive muscle weakness and wasting in a scapulohumeroperoneal distribution

Early contractures of the elbow, ankle, and posterior neck

Cardiac conduction defects, cardiomyopathy, or both

Onset is usually in the teenage years, but the condition can present with neonatal hypotonia or through the third decade. Patients typically develop weakness of peroneal muscles with toe-walking late in the first decade or in the early teenage years.

Prominent interfamilial and intrafamilial variability can exist, even with the same mutation types. However, sometimes a clear difference between mutation types cannot be found in families.

Left: The photomicrograph is a muscle biopsy with normal emerin immunostaining. Right: The micrograph is from a patient with X-linked Emery-Dreifuss muscular dystrophy. Note the absence of nuclear staining as well as the hypertrophied and atrophied muscle fibers.

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encoded search term (Which clinical history findings are characteristic of Emery-Dreifuss muscular dystrophy (EDMD)?) and Which clinical history findings are characteristic of Emery-Dreifuss muscular dystrophy (EDMD)?